These mice were created by either breeding, or by targeting ES cells as follows. A targeting vector containing a PGK promoter, a loxP site and a neomycin resistance gene was inserted into the DiGeorge syndrome critical region gene 2, resulting in the loss of exons 4 and 5. These ES cells were additionally targeted with a vector containing two regions of the armadillo repeat gene deleted in velo-cardio-facial syndrome flanking a hygromycin resistance gene, a loxP site and a promoterless puromycin resistance gene. The insertion of this vector resulted in the loss of amino acids 83-276. Subsequent transient cre expression when the loxP sites were in cis resulted in the deletion of sequence between the two loxP sites. This 550-kb deletion encompasses 16 genes. (J:64380)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Gene Expression
Related Disease
Reference
STOCK 129/Sv and C57BL/6J and SJL
Targeted
Intergenic deletion, Intragenic deletion
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1

Phenotypes

Legend:
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes:
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Phenotypes

References Literature

Title
PMID
Journal
Year
IF
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